Down Syndrome

Down Syndrome

Most common Autosomal Abnormality

 

C/P

- M.R ( never sever )

- Development retardation

- Hypotonia

- Head : Brachycephalic Microcephaly Flat occiput Silky hair.

- Eye :

1. - Upward slanting - Hypertelorism " pseudo " MCQ
2. - Medial epicanthic fold - Brush field spot
3. - Nystagmus - Cataract
4. - Narrow palpebral fissure

- Nose : - Depressed nasal bridge.

- Ear : - small – low set – back . displaced.

- Tongue : - protruded - fissured

- Neck : - short - webbed

- Hand

• - brachydactyly - clinodacctyly
• - simian crease : Transverse palmer crease partial or complete

- Foot :

• - Wide space ( ) big , 2nd toe
• - Syndal line : deep planter crease

﴾ Associated Cong. Anomalies ﴿

1 ) Abdomen : * Diastatic recti * Umbilical Hernia * Cong. Mega colon

2 ) U.T : * Imperforated anus. * Duodenal atresia ( i commonest )

3 ) CHD : - 50%

- Atreo-venticular canal defect ( commonest ) مﺎھ

- VSD

Complication :

* MR : Accident

* GIT : Anomalies . . . .

* CHD :

• HF
• Recurrent chest inf.( commonest Presentation )

* Leukemia

• 20 times > General population

Investigations :

Prenatal	After birth
- chorionic villi sampling → 8wk - Amniocentesis → 16 wk - Mother Karyotyping in old age exposure to radiation	- karyotype : to Determine CytogenicType , Recurrence risk. - CVS : X- ray , ECG , Echo - BL : CBC à leukemia - Barium study à GIT anomaly - Radiology à U.T anomaly - Thyroid function Tests : ( TSH ,T3 , T4)

D.D	Mongoloid facies	- Racial - Ch.hemolytic Anemia - congenital Hypertelorism
	MR	- Cretinism - Hydrocephalous C.P - Microcephally - Phenylketonuria - Hydrocephally - Galactosemia
	Other trisomy	18 Edward ( Hypertonia), 13 Patou (polydactyly)

TTT:

- Of cong. Anomalies & Associated disorder

+ Genetic counseling

- Social – Educational , Behavioral Therapy.